The Importance of Genetic Study in Cystic Fibrosis

Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descendents. It affects about 85,000 people worldwide [1]. It is characterized by multiple and systemic clinical manifestations that primarily affect exocrine sweat glands, lungs and pancreas while presenting great variability in its severity [2]. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene(CFTRgene), which encodes the cystic fibrosis transmembrane regulatory protein (CFTR), located on chromosome 7 (locus7q31), leading to the absence or loss of CFTR function which, under normal conditions, acts as a chloride channel [3].